Defining the Genetics, Biomarkers and Outcomes for Dilated Cardiomyopathy: a Prospective Multi-centre Observational Study

Official Summary

Finding new ways to diagnose and treat Dilated Cardiomyopathy (DCM) could improve the health and well-being of patients with this condition. The main aim of this research study is to help develop better ways of diagnosing and treating patients with DCM. The information that is collected may help develop tailored treatments for patients with this disease in the future. This research study will recruit patients with DCM from a number of centres across England and follow their health over a period of years. Patients will give some blood samples for a type of genetic test called whole genome sequencing (WGS) to look for genetic changes. Patients will also have a magnetic resonance imaging (MRI) scan of their heart to look for any changes in the heart such as scarring, and check their heart function. The aim of this study is to discover if using WGS and MRI can improve the diagnosis of DCM. Another aim of the study is to look at how genetic changes and scarring in the heart may affect the progress of the disease. Studying patients with DCM may also help the investigators learn more about diagnosing and treating other diseases of the heart. The second aim of this study is to see whether using WGS and MRI scanning can also be useful in other types of heart diseases which might be affected by genetic changes or scarring in the heart.

Study Design

• Study Type: OBSERVATIONAL
• Enrollment: 2,000 participants

Interventions

• OTHER: Part 1: DCM Cohort — Patients with a confirmed diagnosis of DCM will have samples that undergo whole genome sequencing and biomarker analysis
• OTHER: Part 2: Heritable CV Diseases and Family Members — Biomarker analysis will be undertaken on samples

Primary Outcomes

• The incidence of major adverse cardiovascular events over 5 years (5 years)
• Incidence of novel gene variants as assessed using whole genome sequencing (5 years)

Eligibility Criteria

PART 1

Inclusion Criteria:

* Male or female participants of any age
* Capacity to provide informed consent
* Patients with a confirmed diagnosis of DCM
* Affected family members of patients meeting diagnostic criteria for DCM

Exclusion Criteria:

* DCM attributed to chemotoxicity (from chemotherapeutic agents, drugs of abuse)
* DCM attributed to systemic inflammatory myopathies (eg sarcoid, systemic lupus erythematosus)
* Patients who lack capacity to consent for themselves
* Patients with a confirmed history of coronary artery disease, assessed using standard UK clinical practice guidelines, defined as one or more of the following:-

  * \>50% narrowing, any major epicardial coronary artery on invasive or computed tomography coronary angiography
  * CMR suggestive of previous myocardial infarction of ≥2 segments of ≥50% infarction of the LV wall
  * Previous percutaneous coronary intervention or coronary bypass surgery
* History of primary valvular heart disease or congenital heart disease
* Severe, untreated or untreatable hypertension (systolic blood pressures routinely \>180 mm Hg and/or diastolic blood pressures \>120 mm Hg)

PART 2

Inclusion Criteria:

* Males or females of any age
* Capacity to provide informed consent
* Patients with hypokinetic non-dilated cardiomyopathy, or
* Family members of DCM patients with possible or probable DCM or
* Patients with a confirmed diagnosis of heritable cardiovascular disease or
* Family members of patients with heritable cardiovascular disease, both affected and unaffected

Exclusion Criteria:

* Patients who lack capacity to consent for themselves
* Patients with a confirmed history of coronary artery disease, assessed using standard UK clinical practice guidelines, defined as one or more of the following:-

  * \>50% narrowing, any major epicardial coronary artery on invasive or computed tomography coronary angiography
  * CMR suggestive of previous myocardial infarction of ≥2 segments of ≥50% infarction of the LV wall
  * Previous percutaneous coronary intervention or coronary bypass surgery
* History of primary valvular heart disease or congenital heart disease
* Severe, untreated or untreatable hypertension (systolic blood pressures routinely \>180 mm Hg and/or diastolic blood pressures \>120 mm Hg)

Trial Locations

• Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom
• Glenfield Hospital, Leicester, United Kingdom
• Liverpool Heart and Chest Hospital NHS Foundation Trust, Liverpool, United Kingdom
• Royal Brompton & Harefield NHS Foundation Trust, London, United Kingdom
• Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom
• Southampton General Hospital, Southampton, United Kingdom

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